Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures

Background Mutations in the HECT domain of NEDD4L have recently been identified in a cohort of eight patients with a syndromic form of bilateral periventricular nodular heterotopia (PVNH) in association with neurodevelopmental delay, cleft palate, and toe syndactyly (PVNH7). Methods Case report base...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Molecular genetics & genomic medicine 2018-11, Vol.6 (6), p.1255-1260
Hauptverfasser:	Elbracht, Miriam, Kraft, Florian, Begemann, Matthias, Holschbach, Petra, Mull, Michael, Kabat, Ildiko M., Müller, Britta, Häusler, Martin, Kurth, Ingo, Hehr, Ute
Format:	Artikel
Sprache:	eng
Schlagworte:	arthrogryposis Child Cleft lip/palate Clinical Report Clinical Reports Contracture - genetics Contracture - pathology Cortex Female fetal hypokinesia Fetuses Heterozygote Humans Hypokinesia Hypokinesia - genetics Hypokinesia - pathology Mutation Mutation, Missense nanopore sequencing Nedd4 Ubiquitin Protein Ligases - genetics NEDD4L Neurodevelopmental disorders Peripheral blood Periventricular Nodular Heterotopia - genetics Periventricular Nodular Heterotopia - pathology periventricular nodular heterotopias Phenotype Phenotypes Pregnancy Syndactyly Syndrome Ventricle (lateral)
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!